D97N (p.Asp97Asn) variant of SLC8A1 (Sodium/calcium exchanger 1)
D97N (p.Asp97Asn) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D97N (p.Asp97Asn) variant details
- p.Asp97Asn
- NCI-TCGA TCGA novel
- TOPMed rs1697878423
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available